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Gene | TET2 |
Variant | A1505T |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TET2 A1505T lies within the catalytic domain of the Tet2 protein (PMID: 24315485). A1505T confers a loss of function to the Tet2 protein as demonstrated by the inability of Tet2 to inhibit cell proliferation, lack of WT1 binding and regulation of WT1 target genes, and reduced enzymatic conversion of 5mC (PMID: 25601757). |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 inact mut TET2 A1505T |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105272894G>A |
cDNA | c.4513G>A |
Protein | p.A1505T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006714242.3 | chr4:g.105275323G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105272894G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105272894G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
NM_001127208 | chr4:g.105272894G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105272894G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105272894G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105272894G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105272894G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
XM_006714242.4 | chr4:g.105275323G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105272894G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105272894G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105272894G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
XM_006714242 | chr4:g.105275323G>A | c.4513G>A | p.A1505T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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